title: Spondyloepiphyseal dysplasia tarda: four cases from two families.
abstract: Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessively inherited skeletal dysplasia. We present four patients (three patients-a brother and a sister and their third cousin-in a family and one patient in another family) with SEDT-PA. All patients had short stature and stubby hands and feet. Their radiographs revealed typical changes for SEDT-PA including platyspondyly, severe osteopenia and dysplastic bone changes. Physical therapy and exercises were performed to all patients in order to decrease in pain and increase or at least maintain joint motion and mobility. Symptomatic relief was achieved in all patients for about a couple of months. The major clinical importance of this rather rare disorder is its similarity to juvenile idiopathic arthritis which has rather different treatment protocol.
authors.affiliation: Department of Physical Medicine and Rehabilitation, Ataturk Research and Training Hospital, Izmir, Turkey.
authors.forename: Serpil
authors.initials: S
authors.lastname: Bal
authors.forename: Hikmet
authors.initials: H
authors.lastname: Kocyigit
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Turan
authors.forename: Alev
authors.initials: A
authors.lastname: Gurgan
authors.forename: Korhan Baris
authors.initials: KB
authors.lastname: Bayram
authors.forename: Anil
authors.initials: A
authors.lastname: Güvenc
authors.forename: Zehra
authors.initials: Z
authors.lastname: Kocaaga
authors.forename: Berna
authors.initials: B
authors.lastname: Dirim
mesh_terms: D000328:Adult; D001171:Arthritis, Juvenile / Q000175:diagnosis*; D001177:Arthropathy, Neurogenic / Q000235:genetics*; D002648:Child; D003937:Diagnosis, Differential; D005190:Family; D005260:Female; D005808:Genes, Recessive; D006225:Hand / Q000000981:diagnostic imaging / Q000503:physiopathology; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D010147:Pain Measurement; D011859:Radiography; D016059:Range of Motion, Articular; D035781:Siblings; D055815:Young Adult